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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-128733461-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128733461&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128733461,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006336.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "NM_006336.4",
"protein_id": "NP_006327.2",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291900.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006336.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000291900.7",
"protein_id": "ENSP00000291900.2",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006336.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291900.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Met745Ile",
"transcript": "ENST00000960734.1",
"protein_id": "ENSP00000630793.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 775,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960734.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "NM_001375954.1",
"protein_id": "NP_001362883.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375954.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "NM_001375955.1",
"protein_id": "NP_001362884.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375955.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "NM_001375956.1",
"protein_id": "NP_001362885.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375956.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000873659.1",
"protein_id": "ENSP00000543718.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873659.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000929005.1",
"protein_id": "ENSP00000599064.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929005.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960717.1",
"protein_id": "ENSP00000630776.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960717.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960718.1",
"protein_id": "ENSP00000630777.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960718.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960720.1",
"protein_id": "ENSP00000630779.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960720.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960722.1",
"protein_id": "ENSP00000630781.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960722.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960724.1",
"protein_id": "ENSP00000630783.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960724.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960730.1",
"protein_id": "ENSP00000630789.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960730.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000960731.1",
"protein_id": "ENSP00000630790.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960731.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "NM_001375957.1",
"protein_id": "NP_001362886.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375957.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "NM_001375958.1",
"protein_id": "NP_001362887.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375958.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000873658.1",
"protein_id": "ENSP00000543717.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873658.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000929006.1",
"protein_id": "ENSP00000599065.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929006.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000960719.1",
"protein_id": "ENSP00000630778.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960719.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000960725.1",
"protein_id": "ENSP00000630784.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960725.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000960727.1",
"protein_id": "ENSP00000630786.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
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{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006336.4",
"gene_symbol": "ZER1",
"hgnc_id": 30960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2208G>A",
"hgvs_p": "p.Met736Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000443631.3",
"gene_symbol": "ZDHHC12-DT",
"hgnc_id": 55873,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*148C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}